Canonical Allele Identifier: CA2611772249

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822241-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822241G>A , CM000673.2:g.822241G>A	GRCh38
NC_000011.9:g.822241G>A , CM000673.1:g.822241G>A	GRCh37
NC_000011.8:g.812241G>A	NCBI36
NG_023394.1:g.8341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.487-156G>A MANE Select	ENSP00000337701.4:n.487-156G>A
ENST00000336615.8:c.487-156G>A	ENSP00000337701.4:n.487-156G>A
ENST00000525250.5:n.1093-156G>A
ENST00000531923.1:n.226G>A
ENST00000534561.1:n.371G>A
ENST00000617551.1:c.-764-156G>A	ENSP00000481602.1:n.-764-156G>A
NM_020376.3:c.487-156G>A	NP_065109.1:n.487-156G>A
XM_006718265.2:c.487-156G>A	XP_006718328.1:n.487-156G>A
XM_006718266.2:c.487-156G>A	XP_006718329.1:n.487-156G>A
XM_006718265.3:c.487-156G>A	XP_006718328.1:n.487-156G>A
XM_006718266.3:c.487-156G>A	XP_006718329.1:n.487-156G>A
XM_017018028.1:c.487-156G>A	XP_016873517.1:n.487-156G>A
XM_024448618.1:c.487-156G>A	XP_024304386.1:n.487-156G>A
NM_020376.4:c.487-156G>A MANE Select	NP_065109.1:n.487-156G>A